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Literature DB >> 23550007

Kisspeptin and clinical disorders.

Letícia Gontijo Silveira¹, Ana Claudia Latronico, Stephanie Beth Seminara.

Abstract

The hypothalamic hormone GnRH has traditionally been viewed as a central driver of the hypothalamic-pituitary-gonadal axis. Pulsatile GnRH release is required for pulsatile gonadotropin secretion, which then modulates gonadal steroid feedback and brings about full fertility in the adult. Pathways governing GnRH ontogeny and physiology have been discovered by studying humans with disorders of GnRH secretion. In this chapter, the human genetics of the kisspeptin signaling pathway in patients with diverse reproductive phenotypes will be explored. The discovery of defects in the kisspeptin system in several reproductive disorders has shed light on the mechanisms involved in regulating GnRH secretion, revealing the critical role played by the kisspeptin signaling pathway in pubertal initiation and reproductive function.

Entities: CellLine Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2013 PMID： 23550007 PMCID： PMC3926127 DOI： 10.1007/978-1-4614-6199-9_9

Source DB: PubMed Journal: Adv Exp Med Biol ISSN： 0065-2598 Impact factor: 2.622

74 in total

1. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons.

Authors: Pamela A Frischmeyer; Ambro van Hoof; Kathryn O'Donnell; Anthony L Guerrerio; Roy Parker; Harry C Dietz
Journal: Science Date: 2002-03-22 Impact factor: 47.728

2. Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.

Authors: Nelly Pitteloud; James S Acierno; Astrid U Meysing; Andrew A Dwyer; Frances J Hayes; William F Crowley
Journal: J Clin Endocrinol Metab Date: 2004-12-21 Impact factor: 5.958

3. KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.

Authors: Balasubramanian Bhagavath; Ning Xu; Metin Ozata; Robert L Rosenfield; David P Bick; Richard J Sherins; Lawrence C Layman
Journal: Mol Hum Reprod Date: 2007-01-09 Impact factor: 4.025

4. Kisspeptin-10 inhibits cell migration in vitro via a receptor-GSK3 beta-FAK feedback loop in HTR8SVneo cells.

Authors: A K Roseweir; A A Katz; R P Millar
Journal: Placenta Date: 2012-02-18 Impact factor: 3.481

5. A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.

Authors: Revital Nimri; Yael Lebenthal; Liora Lazar; Lucie Chevrier; Moshe Phillip; Meytal Bar; Eva Hernandez-Mora; Nicolas de Roux; Galia Gat-Yablonski
Journal: J Clin Endocrinol Metab Date: 2010-12-30 Impact factor: 5.958

6. TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.

Authors: A Kemal Topaloglu; Frank Reimann; Metin Guclu; Ayse Serap Yalin; L Damla Kotan; Keith M Porter; Ayse Serin; Neslihan O Mungan; Joshua R Cook; Sazi Imamoglu; N Sema Akalin; Bilgin Yuksel; Stephen O'Rahilly; Robert K Semple
Journal: Nat Genet Date: 2008-12-11 Impact factor: 38.330

7. Preoptic area brain grafts in hypogonadal (hpg) female mice abolish effects of congenital hypothalamic gonadotropin-releasing hormone (GnRH) deficiency.

Authors: M J Gibson; H M Charlton; M J Perlow; E A Zimmerman; T F Davies; D T Krieger
Journal: Endocrinology Date: 1984-05 Impact factor: 4.736

8. The GPR54 gene as a regulator of puberty.

Authors: Stephanie B Seminara; Sophie Messager; Emmanouella E Chatzidaki; Rosemary R Thresher; James S Acierno; Jenna K Shagoury; Yousef Bo-Abbas; Wendy Kuohung; Kristine M Schwinof; Alan G Hendrick; Dirk Zahn; John Dixon; Ursula B Kaiser; Susan A Slaugenhaupt; James F Gusella; Stephen O'Rahilly; Mark B L Carlton; William F Crowley; Samuel A J R Aparicio; William H Colledge
Journal: N Engl J Med Date: 2003-10-23 Impact factor: 91.245

9. Kisspeptin/Gpr54-independent gonadotrophin-releasing hormone activity in Kiss1 and Gpr54 mutant mice.

Authors: Y M Chan; S Broder-Fingert; K M Wong; S B Seminara
Journal: J Neuroendocrinol Date: 2009-10-14 Impact factor: 3.627

10. Simulation of the normal menstrual cycle in Kallman's syndrome by pulsatile administration of luteinizing hormone-releasing hormone (LHRH).

Authors: W F Crowley; J W McArthur
Journal: J Clin Endocrinol Metab Date: 1980-07 Impact factor: 5.958

11 in total

Review 1. Kisspeptin signalling in the physiology and pathophysiology of the urogenital system.

Authors: Fazal Wahab; Bibi Atika; Muhammad Shahab; Rüdiger Behr
Journal: Nat Rev Urol Date: 2015-12-01 Impact factor: 14.432

2. Leptin-responsive GABAergic neurons regulate fertility through pathways that result in reduced kisspeptinergic tone.

Authors: Cecilia Martin; Víctor M Navarro; Serap Simavli; Linh Vong; Rona S Carroll; Bradford B Lowell; Ursula B Kaiser
Journal: J Neurosci Date: 2014-04-23 Impact factor: 6.167

Review 3. Paediatric and adult-onset male hypogonadism.

Authors: Andrea Salonia; Giulia Rastrelli; Geoffrey Hackett; Stephanie B Seminara; Ilpo T Huhtaniemi; Rodolfo A Rey; Wayne J G Hellstrom; Mark R Palmert; Giovanni Corona; Gert R Dohle; Mohit Khera; Yee-Ming Chan; Mario Maggi
Journal: Nat Rev Dis Primers Date: 2019-05-30 Impact factor: 52.329

4. A "kiss" before conception: triggering ovulation with kisspeptin-54 may improve IVF.

Authors: Steven L Young
Journal: J Clin Invest Date: 2014-07-18 Impact factor: 14.808

Review 5. The 3^rd World Conference on Kisspeptin, "Kisspeptin 2017: Brain and Beyond":Unresolved questions, challenges and future directions for the field.

Authors: Michael N Lehman; Lique M Coolen; Robert A Steiner; Genevieve Neal-Perry; Luhong Wang; Suzanne M Moenter; Aleisha M Moore; Robert L Goodman; Shel Hwa-Yeo; Stephanie L Padilla; Alexander S Kauffman; James Garcia; Martin J Kelly; Jenny Clarkson; Sally Radovick; Andy V Babwah; Silvia Leon; Manuel Tena-Sempere; Alex Comninos; Stephanie Seminara; Waljit S Dhillo; Jon Levine; Ei Terasawa; Ariel Negron; Allan E Herbison
Journal: J Neuroendocrinol Date: 2018-04-14 Impact factor: 3.870

Kisspeptin and clinical disorders.

1. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons.

2. Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.

3. KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.

4. Kisspeptin-10 inhibits cell migration in vitro via a receptor-GSK3 beta-FAK feedback loop in HTR8SVneo cells.

5. A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.

6. TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.

7. Preoptic area brain grafts in hypogonadal (hpg) female mice abolish effects of congenital hypothalamic gonadotropin-releasing hormone (GnRH) deficiency.

8. The GPR54 gene as a regulator of puberty.

9. Kisspeptin/Gpr54-independent gonadotrophin-releasing hormone activity in Kiss1 and Gpr54 mutant mice.

10. Simulation of the normal menstrual cycle in Kallman's syndrome by pulsatile administration of luteinizing hormone-releasing hormone (LHRH).

Review 1. Kisspeptin signalling in the physiology and pathophysiology of the urogenital system.

2. Leptin-responsive GABAergic neurons regulate fertility through pathways that result in reduced kisspeptinergic tone.

Review 3. Paediatric and adult-onset male hypogonadism.

4. A "kiss" before conception: triggering ovulation with kisspeptin-54 may improve IVF.

Review 5. The 3^rd World Conference on Kisspeptin, "Kisspeptin 2017: Brain and Beyond":Unresolved questions, challenges and future directions for the field.

6. Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate.

Review 7. The Role of Single-Nucleotide Polymorphisms in Pituitary Adenomas Tumorigenesis.

8. Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs Adolescent Puberty: Human Genetic Evidence.

9. Evidence of Alternative Splicing as a Regulatory Mechanism for Kissr2 in Pejerrey Fish.

10. An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family.

Review 1. Kisspeptin signalling in the physiology and pathophysiology of the urogenital system.

Review 3. Paediatric and adult-onset male hypogonadism.

Review 5. The 3rd World Conference on Kisspeptin, "Kisspeptin 2017: Brain and Beyond":Unresolved questions, challenges and future directions for the field.

Review 7. The Role of Single-Nucleotide Polymorphisms in Pituitary Adenomas Tumorigenesis.

Review 5. The 3^rd World Conference on Kisspeptin, "Kisspeptin 2017: Brain and Beyond":Unresolved questions, challenges and future directions for the field.